ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.936+2T>C (rs797045011)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986430 SCV001135430 likely pathogenic Hutchinson-Gilford syndrome 2019-05-28 criteria provided, single submitter clinical testing
Mendelics RCV000190509 SCV000245395 pathogenic Emery-Dreifuss muscular dystrophy 2, autosomal dominant 2014-04-09 no assertion criteria provided clinical testing

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